{ "uniprot_canonical_ac": "O14792-1", "uniprot_ac": "O14792", "uniprot_id": "HS3S1_HUMAN", "mass": { "chemical_mass": 35773.0, "monoisotopic_mass": 35773.0 }, "refseq": { "ac": "NP_005105", "name": "heparan sulfate glucosamine 3-O-sulfotransferase 1 precursor", "summary": "Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" }, "gene_names": [ { "name": "HS3ST1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14792", "id": "O14792" }, { "name": "3OST1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14792", "id": "O14792" }, { "name": "3OST; 3OST1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105", "id": "NP_005105" }, { "name": "3OST", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14792", "id": "O14792" }, { "name": "HS3ST1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105", "id": "NP_005105" } ], "protein_names": [ { "name": "Heparan sulfate glucosamine 3-O-sulfotransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14792" }, { "name": "2.8.2.23", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14792" }, { "name": "3-OST-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14792" }, { "name": "Heparan sulfate 3-O-sulfotransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14792" }, { "name": "Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14792" }, { "name": "h3-OST-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14792" }, { "name": "heparan sulfate glucosamine 3-O-sulfotransferase 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105", "id": "NP_005105" }, { "name": "heparin-glucosamine 3-O-sulfotransferase; 3-OST-1; h3-OST-1; heparan sulfate 3-O-sulfotransferase 1; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1; heparan sulfate (glucosamine) 3-O-sulfotransferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105", "id": "NP_005105" } ], "function": [ { "annotation": "Compared with Hs3st1+/+ mice, Hs3st1-/- mice were more susceptible to LPS-induced death due to an increased sensitivity to TNF", "evidence": [ { "database": "RefSeq", "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" }, { "database": "PubMed", "id": "28126521", "url": "https://glygen.org/publication/PubMed/28126521" } ] }, { "annotation": "Golgi-targeted HS3st1 localizes in the Golgi and results in the formation of a single type of AT-binding site and high anti-factor Xa activity", "evidence": [ { "database": "RefSeq", "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" }, { "database": "PubMed", "id": "24247246", "url": "https://glygen.org/publication/PubMed/24247246" } ] }, { "annotation": "Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" } ] }, { "annotation": "In this paper a conformational change is described that occurs in heparan sulfate 3-O-sulfotransferase-1 upon binding to heparan sulfate.", "evidence": [ { "database": "RefSeq", "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" }, { "database": "PubMed", "id": "15096036", "url": "https://glygen.org/publication/PubMed/15096036" } ] }, { "annotation": "Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan (PubMed:9346953, PubMed:8900198, PubMed:9988768). Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact) (PubMed:8900198, PubMed:9988768). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site (PubMed:8900198, PubMed:9988768).", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792#function" }, { "database": "PubMed", "id": "9346953", "url": "https://glygen.org/publication/PubMed/9346953" }, { "database": "PubMed", "id": "9988768", "url": "https://glygen.org/publication/PubMed/9988768" }, { "database": "PubMed", "id": "8900198", "url": "https://glygen.org/publication/PubMed/8900198" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs764361372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764361372" }, { "id": "rs764361372", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764361372" }, { "id": "rs764361372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764361372" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "4", "chr_pos": "11399593", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764361372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764361372" }, { "id": "rs764361372", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764361372" }, { "id": "rs764361372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764361372" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NRS).", "chr_id": "4", "chr_pos": "11399593", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867060972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867060972" }, { "id": "rs867060972", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867060972" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "4", "chr_pos": "11399594", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755627376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755627376" }, { "id": "rs755627376", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755627376" }, { "id": "rs755627376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755627376" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 192, "end_pos": 192, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->DRS).", "chr_id": "4", "chr_pos": "11399432", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750095284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750095284" }, { "id": "rs750095284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750095284" }, { "id": "rs750095284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750095284" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 192, "end_pos": 192, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->SRS).", "chr_id": "4", "chr_pos": "11399431", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412959150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412959150" }, { "id": "rs1412959150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412959150" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 194, "end_pos": 194, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRG).", "chr_id": "4", "chr_pos": "11399426", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14792", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14792" }, { "id": "rs769665525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769665525" }, { "id": "rs769665525", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769665525" }, { "id": "rs769665525", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769665525" }, { "id": "rs769665525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769665525" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 244, "end_pos": 244, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAS->NAL).", "chr_id": "4", "chr_pos": "11399275", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S244", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs941492167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs941492167" }, { "id": "rs941492167", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs941492167" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 247, "end_pos": 247, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFY->NFS).", "chr_id": "4", "chr_pos": "11399266", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770463073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770463073" }, { "id": "rs770463073", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770463073" }, { "id": "rs770463073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770463073" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 249, "end_pos": 249, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->KKT).", "chr_id": "4", "chr_pos": "11399259", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14792", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14792" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 251, "end_pos": 251, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NKT->NKI).", "chr_id": "4", "chr_pos": "11399254", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T251", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1240584846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240584846" }, { "id": "rs1240584846", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1240584846#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 48, "end_pos": 48, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->DGS).", "chr_id": "4", "chr_pos": "11399864", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N48", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751498222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751498222" }, { "id": "rs751498222", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751498222" }, { "id": "rs751498222", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751498222" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 95, "end_pos": 95, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HYS->NYS).", "chr_id": "4", "chr_pos": "11399723", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H95", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "65.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "72.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "65.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "64.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "51.77", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "64.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000002587", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000002587" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14792", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14792" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14792", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14792" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14792" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14792#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "O14792", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14792#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "McCormick C, Duncan G, Goutsos KT, Tufaro F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10639137", "url": "https://glygen.org/publication/PubMed/10639137" } ] }, { "title": "The occurrence of three isoforms of heparan sulfate 6-O-sulfotransferase having different specificities for hexuronic acid adjacent to the targeted N-sulfoglucosamine.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Habuchi H, Tanaka M, Habuchi O, Yoshida K, Suzuki H, Ban K, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10644753", "url": "https://glygen.org/publication/PubMed/10644753" } ] }, { "title": "Expression of heparan sulphate L-iduronyl 2-O-sulphotransferase in human kidney 293 cells results in increased D-glucuronyl 2-O-sulphation.", "journal": "The Biochemical journal", "date": "2000", "authors": "Rong J, Habuchi H, Kimata K, Lindahl U, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10677367", "url": "https://glygen.org/publication/PubMed/10677367" } ] }, { "title": "Heparan sulfate proteoglycans on the cell surface: versatile coordinators of cellular functions.", "journal": "The international journal of biochemistry & cell biology", "date": "2000", "authors": "Tumova S, Woods A, Couchman JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "10716625", "url": "https://glygen.org/publication/PubMed/10716625" } ] }, { "title": "Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase. Structure and activity of the fourth member, NDST4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aikawa J, Grobe K, Tsujimoto M, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11087757", "url": "https://glygen.org/publication/PubMed/11087757" } ] }, { "title": "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.", "journal": "Cell motility and the cytoskeleton", "date": "2001", "authors": "Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11169766", "url": "https://glygen.org/publication/PubMed/11169766" } ] }, { "title": "Characterization of the D-glucuronyl C5-epimerase involved in the biosynthesis of heparin and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Li JP, Gong F, El Darwish K, Jalkanen M, Lindahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11274177", "url": "https://glygen.org/publication/PubMed/11274177" } ] }, { "title": "Cloning, Golgi localization, and enzyme activity of the full-length heparin/heparan sulfate-glucuronic acid C5-epimerase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Crawford BE, Olson SK, Esko JD, Pinhal MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "11279150", "url": "https://glygen.org/publication/PubMed/11279150" } ] }, { "title": "Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Xia G, Chen J, Tiwari V, Ju W, Li JP, Malmstrom A, Shukla D, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "12138164", "url": "https://glygen.org/publication/PubMed/12138164" } ] }, { "title": "Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties.", "journal": "The Biochemical journal", "date": "2003", "authors": "Habuchi H, Miyake G, Nogami K, Kuroiwa A, Matsuda Y, Kusche-Gullberg M, Habuchi O, Tanaka M, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "12492399", "url": "https://glygen.org/publication/PubMed/12492399" } ] }, { "title": "Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Suda T, Kamiyama S, Suzuki M, Kikuchi N, Nakayama K, Narimatsu H, Jigami Y, Aoki T, Nishihara S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "15082721", "url": "https://glygen.org/publication/PubMed/15082721" } ] }, { "title": "A conformational change in heparan sulfate 3-O-sulfotransferase-1 is induced by binding to heparan sulfate.", "journal": "Biochemistry", "date": "2004", "authors": "Edavettal SC, Carrick K, Shah RR, Pedersen LC, Tropsha A, Pope RM, Liu J", "evidence": [ { "database": "RefSeq", "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" } ], "reference": [ { "type": "PubMed", "id": "15096036", "url": "https://glygen.org/publication/PubMed/15096036" } ] }, { "title": "Identification and characterization of human Golgi nucleotide sugar transporter SLC35D2, a novel member of the SLC35 nucleotide sugar transporter family.", "journal": "Genomics", "date": "2005", "authors": "Ishida N, Kuba T, Aoki K, Miyatake S, Kawakita M, Sanai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "15607426", "url": "https://glygen.org/publication/PubMed/15607426" } ] }, { "title": "Characterization of the N-deacetylase domain from the heparan sulfate N-deacetylase/N-sulfotransferase 2.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Duncan MB, Liu M, Fox C, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "16343444", "url": "https://glygen.org/publication/PubMed/16343444" } ] }, { "title": "Target selection of heparan sulfate hexuronic acid 2-O-sulfotransferase.", "journal": "Glycobiology", "date": "2010", "authors": "Smeds E, Feta A, Kusche-Gullberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "20554947", "url": "https://glygen.org/publication/PubMed/20554947" } ] }, { "title": "Bioengineered Chinese hamster ovary cells with Golgi-targeted 3-O-sulfotransferase-1 biosynthesize heparan sulfate with an antithrombin-binding site.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Datta P, Li G, Yang B, Zhao X, Baik JY, Gemmill TR, Sharfstein ST, Linhardt RJ", "evidence": [ { "database": "RefSeq", "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" } ], "reference": [ { "type": "PubMed", "id": "24247246", "url": "https://glygen.org/publication/PubMed/24247246" } ] }, { "title": "HS3ST1 genotype regulates antithrombin's inflammomodulatory tone and associates with atherosclerosis.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2017", "authors": "Smits NC, Kobayashi T, Srivastava PK, Skopelja S, Ivy JA, Elwood DJ, Stan RV, Tsongalis GJ, Sellke FW, Gross PL, Cole MD, DeVries JT, Kaplan AV, Robb JF, Williams SM, Shworak NW", "evidence": [ { "database": "RefSeq", "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105" } ], "reference": [ { "type": "PubMed", "id": "28126521", "url": "https://glygen.org/publication/PubMed/28126521" } ] }, { "title": "Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.", "journal": "Genomics", "date": "1995", "authors": "Dixon J, Loftus SK, Gladwin AJ, Scambler PJ, Wasmuth JJ, Dixon MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "7601448", "url": "https://glygen.org/publication/PubMed/7601448" } ] }, { "title": "Purification of heparan sulfate D-glucosaminyl 3-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Liu J, Shworak NW, Fritze LM, Edelberg JM, Rosenberg RD", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" } ], "reference": [ { "type": "PubMed", "id": "8900198", "url": "https://glygen.org/publication/PubMed/8900198" } ] }, { "title": "Molecular cloning and expression of mouse and human cDNAs encoding heparan sulfate D-glucosaminyl 3-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shworak NW, Liu J, Fritze LM, Schwartz JJ, Zhang L, Logeart D, Rosenberg RD", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" }, { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9346953", "url": "https://glygen.org/publication/PubMed/9346953" } ] }, { "title": "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.", "journal": "American journal of human genetics", "date": "1998", "authors": "Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Ludecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9463333", "url": "https://glygen.org/publication/PubMed/9463333" } ] }, { "title": "Molecular characterization and expression of heparan-sulfate 6-sulfotransferase. Complete cDNA cloning in human and partial cloning in Chinese hamster ovary cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Habuchi H, Kobayashi M, Kimata K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9535912", "url": "https://glygen.org/publication/PubMed/9535912" } ] }, { "title": "Molecular cloning and expression of a third member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Aikawa J, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9915799", "url": "https://glygen.org/publication/PubMed/9915799" } ] }, { "title": "Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase. Isolation, characterization, and expression of human cDNAs and identification of distinct genomic loci.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Shworak NW, Liu J, Petros LM, Zhang L, Kobayashi M, Copeland NG, Jenkins NA, Rosenberg RD", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" }, { "database": "Reactome", "id": "R-HSA-2022928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928" } ], "reference": [ { "type": "PubMed", "id": "9988767", "url": "https://glygen.org/publication/PubMed/9988767" } ] }, { "title": "Expression of heparan sulfate D-glucosaminyl 3-O-sulfotransferase isoforms reveals novel substrate specificities.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Liu J, Shworak NW, Sinay P, Schwartz JJ, Zhang L, Fritze LM, Rosenberg RD", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" } ], "reference": [ { "type": "PubMed", "id": "9988768", "url": "https://glygen.org/publication/PubMed/9988768" } ] } ], "pathway": [ { "id": "hsa:9957", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9957", "resource": "KEGG Pathway" }, { "id": "R-HSA-2022928", "name": "HS-GAG biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022928", "resource": "Reactome", "description": "HS-GAG biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "O35310-1", "protein_name": "Heparan sulfate glucosamine 3-O-sulfotransferase 1", "gene_name": "Hs3st1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTLLLLGAVLLVAQPQLVHSHPAAPGPGLKQQELLRKVIILPEDTGEGTASNGSTQQLPQTIIIGVRKGGTRALLEMLSLHPDVAAAENEVHFFDWEEHYSQGLGWYLTQMPFSSPHQLTVEKTPAYFTSPKVPERIHSMNPTIRLLLILRDPSERVLSDYTQVLYNHLQKHKPYPPIEDLLMRDGRLNLDYKALNRSLYHAHMLNWLRFFPLGHIHIVDGDRLIRDPFPEIQKVERFLKLSPQINASNFYFNKTKGFYCLRDSGKDRCLHESKGRAHPQVDPKLLDKLHEYFHEPNKKFFKLVGRTFDWH", "length": 311 }, "evidence": [ { "id": "45921068", "url": "http://www.informatics.jax.org/homology/45921068", "database": "MGI" }, { "id": "O14792", "url": "https://omabrowser.org/oma/group/O14792/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9ESG5-1", "protein_name": "Heparan sulfate glucosamine 3-O-sulfotransferase 1", "gene_name": "Hs3st1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTLLLLGAVLLVAQPQLVPSHPAAPGPGLKQQGLLRKVIILPEDTGEGAATNGSTQQLPQTIIIGVRKGGTRALLEMLSLHPDVAAAENEVHFFDWEEHYSQGLGWYLTQMPFSSPHQLTVEKTPAYFTSPKVPERIHSMNPTIRLLLILRDPSERVLSDYTQVLYNHLQKHKPYPPIEDLLMRDGRLNVDYKALNRSLYHAHMLNWLRFFPLGHIHIVDGDRFIRDPFPEIQKVERFLKLSPQINASNFYFNKTKGFYCLRDSGKDRCLHESKGRAHPQVDPKLLDKLHEYFREPNKKFFKLVGRTFDWH", "length": 311 }, "evidence": [ { "id": "45921068", "url": "http://www.informatics.jax.org/homology/45921068", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "sulfotransferase activity", "id": "GO:0008146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008146", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" } ], "pmid": "" }, { "name": "[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity", "id": "GO:0008467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008467", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process, enzymatic modification", "id": "GO:0015015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015015", "evidence": [ { "database": "UniProtKB", "id": "O14792", "url": "https://www.uniprot.org/uniprot/O14792" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 192, "end_pos": 194, "annotation": "n_glycosylation_sequon" }, { "start_pos": 242, "end_pos": 244, "annotation": "n_glycosylation_sequon" }, { "start_pos": 249, "end_pos": 251, "annotation": "n_glycosylation_sequon" }, { "start_pos": 48, "end_pos": 50, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "15461", "name": "", "equation": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ESG5-1", "Q80W66-1", "Q9Y278-1", "Q9Y663-1", "Q9Y661-1", "Q96QI5-1", "O14792-1", "Q8IZT8-1", "Q9Y662-1", "Q8BSL4-1", "Q5GFD5-1", "O35310-1", "Q673U1-1", "Q8BKN6-1", "Q9QZS6-1" ], "evidence": [ { "id": "15461", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15461" } ] }, { "id": "R-HSA-2076383", "name": "HS3ST1 sulfates GlcN at C3 in heparan sulfate", "equation": "", "summary": "Heparan sulfate 3-O-sulfotransferase1 (HS3ST1) transfers sulfate to the 3-OH position on glucosamine (GlcN) residues of heparan sulfate (HS) to form 3-O-sulfated HS. HS3ST1 is the rate limiting enzyme for synthesis of anticoagulant heparan sulfate. Unlike the other members of the HS3ST family, it is probably located in the Golgi lumen (Shworak et al. 1997).", "cellular_location": "Golgi lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14792-1" ], "evidence": [ { "id": "R-HSA-2076383", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2076383" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O14792", "gene_name": "HS3ST1", "activity": [ { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "O14792", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14792" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "O14792", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14792" } ] } ] }, { "uniprot_ac": "O35310", "gene_name": "Hs3st1", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "O35310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35310" } ] }, { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "O35310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35310" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "O35310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35310" } ] } ] }, { "uniprot_ac": "Q5GFD5", "gene_name": "Hs3st6", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q5GFD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5GFD5" } ] }, { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q5GFD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5GFD5" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "Q5GFD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5GFD5" } ] } ] }, { "uniprot_ac": "Q673U1", "gene_name": "Hs3st2", "activity": [ { "ec_number": "2.8.2.29", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q673U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q673U1" } ] }, { "ec_number": "2.8.2.29", "activity": "", "evidence": [ { "id": "Q673U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q673U1" } ] } ] }, { "uniprot_ac": "Q80W66", "gene_name": "Hs3st2", "activity": [ { "ec_number": "2.8.2.29", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q80W66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80W66" } ] }, { "ec_number": "2.8.2.29", "activity": "", "evidence": [ { "id": "Q80W66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80W66" } ] } ] }, { "uniprot_ac": "Q8BKN6", "gene_name": "Hs3st3a1", "activity": [ { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q8BKN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BKN6" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "Q8BKN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BKN6" } ] } ] }, { "uniprot_ac": "Q8BSL4", "gene_name": "Hs3st5", "activity": [ { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q8BSL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BSL4" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "Q8BSL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BSL4" } ] } ] }, { "uniprot_ac": "Q8IZT8", "gene_name": "HS3ST5", "activity": [ { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q8IZT8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IZT8" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "Q8IZT8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IZT8" } ] } ] }, { "uniprot_ac": "Q96QI5", "gene_name": "HS3ST6", "activity": [ { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q96QI5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96QI5" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "Q96QI5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96QI5" } ] } ] }, { "uniprot_ac": "Q9ESG5", "gene_name": "Hs3st1", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q9ESG5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ESG5" } ] }, { "ec_number": "2.8.2.23", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q9ESG5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ESG5" } ] }, { "ec_number": "2.8.2.23", "activity": "", "evidence": [ { "id": "Q9ESG5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ESG5" } ] } ] }, { "uniprot_ac": "Q9QZS6", "gene_name": "Hs3st3b1", "activity": [ { "ec_number": "2.8.2.30", "activity": "3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+).", "evidence": [ { "id": "Q9QZS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QZS6" } ] }, { "ec_number": "2.8.2.30", "activity": "", "evidence": [ { "id": "Q9QZS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QZS6" } ] } ] }, { "uniprot_ac": "Q9Y278", "gene_name": "HS3ST2", "activity": [ { "ec_number": "2.8.2.29", "activity": "3'-phosphoadenylyl sulfate + 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